Adam P Vogel1,2,3,4, Natalie Rommel5,6,7, Andreas Oettinger8, Lisa H Stoll5,6,7, Eva-Maria Kraus5,6, Cynthia Gagnon9,10,11, Marius Horger12, Patrick Krumm12, Dagmar Timmann13, Elsdon Storey14, Ludger Schöls5,6,15, Matthis Synofzik5,6,15. 1. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. vogela@unimelb.edu.au. 2. Center for Neurology, University Hospital Tübingen, Tübingen, Germany. vogela@unimelb.edu.au. 3. Centre for Neuroscience of Speech, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia. vogela@unimelb.edu.au. 4. Redenlab, Melbourne, Australia. vogela@unimelb.edu.au. 5. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. 6. Center for Neurology, University Hospital Tübingen, Tübingen, Germany. 7. Therapiezentrum, University Hospital Tübingen, Tübingen, Germany. 8. Neurology and Rehabilitation, Kliniken Schmieder, Gailingen am Hochrhein, Germany. 9. Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Jonquière, QC, Canada. 10. Clinique des maladies neuromusculaires, Centre de réadaptation en déficience physique Le Parcours du Centre de santé et de services sociaux de Jonquière, Jonquière, QC, Canada. 11. Centre hospitalier affilié universitaire régional (CAUR) de Chicoutimi, Centre de santé et de services sociaux de Chicoutimi, Chicoutimi, QC, Canada. 12. Department of Diagnostic and Interventional Radiology, University Hospital Tübingen, Tübingen, Germany. 13. Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany. 14. Department of Medicine, Monash University, Melbourne, Australia. 15. Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Abstract
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management. METHODS: 11 consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts. A comprehensive behavioural assessment including objective acoustic analysis and expert perceptual ratings of motor speech, the Clinical Assessment of Dysphagia in Neurodegeneration (CADN), videofluoroscopy and standardized tests of dysarthria and swallowing related quality of life was conducted. RESULTS: Speech in this ARSACS cohort is characterized by pitch breaks, prosodic deficits including reduced rate and prolonged intervals, and articulatory deficits. The swallowing profile was characterized by delayed initiation of the swallowing reflex and late epiglottic closure. Four out of ten patients were observed aspirating thin liquids on videofluoroscopy. Patients report that they regularly cough or choke on thin liquids and solids during mealtimes. Swallowing and speech-related quality of life was worse than healthy controls on all domains except sleep. CONCLUSIONS: The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.
BACKGROUND:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management. METHODS: 11 consecutive non-Quebec ARSACSpatients were recruited, and compared to healthy participants from several published and unpublished cohorts. A comprehensive behavioural assessment including objective acoustic analysis and expert perceptual ratings of motor speech, the Clinical Assessment of Dysphagia in Neurodegeneration (CADN), videofluoroscopy and standardized tests of dysarthria and swallowing related quality of life was conducted. RESULTS: Speech in this ARSACS cohort is characterized by pitch breaks, prosodic deficits including reduced rate and prolonged intervals, and articulatory deficits. The swallowing profile was characterized by delayed initiation of the swallowing reflex and late epiglottic closure. Four out of ten patients were observed aspirating thin liquids on videofluoroscopy. Patients report that they regularly cough or choke on thin liquids and solids during mealtimes. Swallowing and speech-related quality of life was worse than healthy controls on all domains except sleep. CONCLUSIONS: The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.
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